Defining the clinical benefits of disease-modifying therapy in people living with spinal muscular atrophy who require permanent ventilation: a UK-based modified Delphi consensus process

@article{scoto2026defining,
  title = {{Defining the clinical benefits of disease-modifying therapy in people living with spinal muscular atrophy who require permanent ventilation: a UK-based modified Delphi consensus process}},
  author = {Mariacristina Scoto and Chiara Marini-Bettolo and Elaine Chan and Anita K. Simonds and Giovanni Baranello and Anne-Marie Childs and Lisa Edel and Christopher Edwards and Marjorie A. Illingworth and Richa Kulshrestha and Min T. Ong and Rishi Pabary and Matt Parton and Sithara Ramdas and Saam Sedehizadeh and Hui-leng Tan and Stuart Wilkinson and Tracey Willis and Elizabeth Wraige and Zaher Raslan},
  journal = {eClinicalMedicine},
  year = {2026},
  month = oct,
  doi = {10.1016/j.eclinm.2026.104278},
  url = {https://linkinghub.elsevier.com/retrieve/pii/S2589537026005316},
  note = {CC BY-NC-ND 4.0},
}

TY  - JOUR
TI  - Defining the clinical benefits of disease-modifying therapy in people living with spinal muscular atrophy who require permanent ventilation: a UK-based modified Delphi consensus process
AU  - Mariacristina Scoto
AU  - Chiara Marini-Bettolo
AU  - Elaine Chan
AU  - Anita K. Simonds
AU  - Giovanni Baranello
AU  - Anne-Marie Childs
AU  - Lisa Edel
AU  - Christopher Edwards
AU  - Marjorie A. Illingworth
AU  - Richa Kulshrestha
AU  - Min T. Ong
AU  - Rishi Pabary
AU  - Matt Parton
AU  - Sithara Ramdas
AU  - Saam Sedehizadeh
AU  - Hui-leng Tan
AU  - Stuart Wilkinson
AU  - Tracey Willis
AU  - Elizabeth Wraige
AU  - Zaher Raslan
PY  - 2026
DA  - 2026/10/24
JO  - eClinicalMedicine
DO  - 10.1016/j.eclinm.2026.104278
UR  - https://linkinghub.elsevier.com/retrieve/pii/S2589537026005316
AB  - Background: Spinal muscular atrophy (SMA) is a rare inherited neuromuscular disorder that may require permanent ventilation (PV) in severe cases. Although disease-modifying therapies (DMTs) have transformed outcomes for many, prior to this research, access in the UK was restricted for patients receiving PV (SMA-PV). This study aimed to develop consensus recommendations on DMT use and to define clinical benefit in SMA-PV. Methods: A multidisciplinary UK-based expert panel conducted a modified Delphi consensus process between 08 April and 09 June 2025. Draft statements informed by published evidence and expert insights were anonymously voted on for up to three rounds, with consensus defined as ≥75% agreement. Statements not achieving consensus were revised and re-evaluated. Input from a non-voting patient advisory panel (PAP) was also considered. The study was not prospectively registered. Findings: Excluding the Chair, 18 participants evaluated 22 statements across seven thematic areas specific to SMA-PV: DMT access; treatment initiation; treatment monitoring; defining clinical benefit; functional outcomes; quality of life (QoL); and future research priorities. All 22 statements achieved consensus after two voting rounds (100% participation; agreement range 89–100%). Two statements were revised and re-voted in round 2: one after narrowly missing consensus (72% agreement) and the other to incorporate PAP feedback despite achieving 100% agreement in round 1. The panel agreed that PV alone should not preclude access to DMTs and that trial access with personalised treatment goals may be appropriate. The panel also emphasised broader definitions of clinical benefit, including subtle changes in function and QoL, alongside sensitive assessment approaches and harmonised outcome measurement. Interpretation: These consensus-based recommendations support careful reconsideration of treatment exclusions for patients with SMA-PV and more inclusive, patient-centred approaches to evaluating treatment benefit. Funding: Roche Products Ltd.
SN  - 2589-5370
ER  -